WHAT NEW RESEARCH IS BEING DONE?

Biotinidase deficiency was first described in 1983. Since then, doctors and scientists have learned much about this genetic condition. But there are still many unanswered questions. For example, why does reduced biotinidase activity lead to hair loss, hearing problems, and seizures? Is there any way to completely correct all health problems caused by biotinidase deficiency if the diagnosis is made late? Is biotin therapy the best treatment? Is the biocytin that is produced in individuals with biotinidase deficiency harmful? Does biotin therapy cause increased amounts of biocytin to be made? Now that we can determine the specific mutation in the biotinidase gene that causes biotinidase deficiency, are there certain mutations that are more likely result in producing symptoms in untreated individuals than others? Researchers are currently trying to answer these and other questions so that your child can receive the most effective treatment possible and so that we can provide you with complete and accurate information.

Recently, the gene for human biotinidase has been isolated and characterized. The biotinidase gene has been shown to be located on the tip of the short arm of chromosome 3. Our laboratory has found over forty different mutations that cause biotinidase deficiency. It is possible to determine the mutation(s) in your child's DNA that caused biotinidase deficiency. Our laboratory is conducting mutation analysis on DNA from children with profound and partial biotinidase deficiency from around the world.

We are in the process of determining the mutations in the DNA that cause profound and partial biotinidase deficiency in children who were symptomatic at the time of diagnosis or who were found to have the deficiency by newborn screening. We would now like to determine the mutation or mutations that causes biotinidase deficiency in your child. This will allow us to compare the mutations in symptomatic children and compare them to the mutations of children identified by newborn screening. This may help us determine if there are differences in the groups and if it is of clinical importance. To do this study we must obtain blood samples from the child with biotinidase deficiency and, if possible from both parents. This testing is experimental at this time.

The blood can be drawn by the physician who forwarded this letter to you or by making arrangements with your primary care physician. We can discuss with them or mail them the consent form for participating in the study and instructions for obtaining the samples.

BACK | Biotinidase Deficiency